Variant report

Variant	rs10056433
Chromosome Location	chr5:75902770-75902771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:75902320-75903018	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75901625..75904371-chr5:75985828..75988323,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F2RL2-1	chr5:75902433-75903909	ENSG00000249713.1

Variant related genes	Relation type
IQGAP2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10056943	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078127	1.00[ASN][1000 genomes]
rs10079178	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1501787	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567779	1.00[CHB][hapmap]
rs17652394	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571797	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797373	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3797389	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3885957	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs55689909	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888854	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722452	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293689	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9293690	1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75873600-75903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:75877000-75902800	Weak transcription	Adipose Nuclei	Adipose
3	chr5:75877400-75902800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:75879000-75913600	Weak transcription	Colonic Mucosa	Colon
5	chr5:75879000-75917600	Weak transcription	Fetal Thymus	thymus
6	chr5:75879000-75934000	Weak transcription	Small Intestine	intestine
7	chr5:75879200-75907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:75879200-75919000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:75879400-75903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:75880200-75933400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
12	chr5:75883400-75904200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:75884000-75903000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:75884000-75914600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr5:75884400-75919200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:75884400-75919400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:75885400-75905000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr5:75886200-75902800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:75889400-75903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:75889400-75903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:75891000-75911800	Weak transcription	Thymus	Thymus
22	chr5:75891200-75909200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:75891200-75911800	Strong transcription	Liver	Liver
24	chr5:75892000-75904000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:75892000-75910400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:75893400-75903400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:75893400-75903400	Weak transcription	Spleen	Spleen
28	chr5:75893600-75903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:75895200-75912800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:75896800-75913800	Weak transcription	Pancreas	Pancrea
31	chr5:75898000-75908800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:75899200-75903400	Weak transcription	Esophagus	oesophagus
33	chr5:75899200-75904400	Weak transcription	K562	blood
34	chr5:75899600-75903000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:75899600-75907200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:75899800-75903200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:75900200-75903000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:75900400-75903000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:75900400-75903200	Enhancers	Osteobl	bone
40	chr5:75900400-75905200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr5:75900800-75907400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:75901000-75906800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:75901200-75903000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:75901200-75904800	Weak transcription	A549	lung
45	chr5:75901200-75911200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:75901200-75917000	Weak transcription	HUVEC	blood vessel
47	chr5:75901400-75902800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:75901400-75903000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:75901400-75903000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:75901400-75903400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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